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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TPO Gene

protein-coding GIFtS: 69
GCID: GC02P001396

thyroid peroxidase

Explore 136 diseases affiliated with
TPO via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Thyroid Peroxidase¹ ²		MSA²
TPX¹ ² ⁵		Thyroid Microsomal Antigen²
EC 1.11.1.8³ ⁸		Thyroperoxidase¹
TDH2A² ⁵		EC 1.11.1⁸

External Ids:	HGNC: 12015¹	Entrez Gene: 7173²	Ensembl: ENSG00000115705⁷	OMIM: 606765⁵	UniProtKB: P07202³

Export aliases for TPO gene to outside databases

Previous GC identifers: GC02P001422 GC02P001360

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TPO:

This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in

thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and

phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and

triiodothyronine. Mutations in this gene are associated with several disorders of thyroid hormonogenesis, including

congenital hypothyroidism, congenital goiter, and thyroid hormone organification defect IIA. Multiple transcript

variants encoding distinct isoforms have been identified for this gene, but the full-length nature of some variants

has not been determined. (provided by RefSeq, May 2011)

UniProtKB/Swiss-Prot: PERT_HUMAN, P07202

Function: Iodination and coupling of the hormonogenic tyrosines in thyroglobulin to yield the thyroid hormones T(3) and

T(4)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_022221.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TPO gene promoter:
AML1a STAT3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TPO promoter sequence

Search SABiosciences Chromatin IP Primers for TPO

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TPO

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p25 Ensembl cytogenetic band: 2p25.3 HGNC cytogenetic band: 2p25

TPO Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TPO gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P001396: view genomic region (about GC identifiers)

Start:	1,377,995 bp from pter	End:	1,547,483 bp from pter
Size:	169,489 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PERT_HUMAN, P07202 (See protein sequence)

Recommended Name: Thyroid peroxidase precursor

Size: 933 amino acids; 102963 Da

Cofactor: Binds 1 calcium ion per heterodimer (By similarity)

Cofactor: Binds 1 heme B (iron-protoporphyrin IX) group covalently per heterodimer (By similarity)

Subunit: Interacts with DUOX1, DUOX2 and CYBA

Subcellular location: Membrane; Single-pass type I membrane protein

Subcellular location: Isoform 3: Cell surface

Secondary accessions: P09934 P09935 Q8IUL0 Q8NF94 Q8NF95 Q8NF96 Q8NF97 Q8TCI9

Alternative splicing: 8 isoforms: P07202-1 P07202-2 P07202-3 P07202-4 P07202-5 P07202-6 P07202-7 P07202-8

(Lacks exons 10 and 14)

Explore the universe of human proteins at neXtProt for TPO: NX_P07202

Post-translational modifications:

Glycosylated¹

Heme is covalently bound through a H(2)O(2)-dependent autocatalytic process. Heme insertion is important for the

delivery of protein at the cell surface¹

Cleaved in its N-terminal part¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P07202

4/12 DME Specific Peptides for TPO (P07202) (see all 12)

QRGRDHG

PCFLAGD

TCLANKYR

RDHGLPGYN

TPO Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (6 alternative transcripts):

NP_000538.3 NP_001193673.1 NP_001193674.1 NP_783650.1 NP_783652.1 NP_783653.1

ENSEMBL proteins:

ENSP00000371704 ENSP00000329869 ENSP00000371636 ENSP00000390994 ENSP00000371633

ENSP00000405788 ENSP00000400033 ENSP00000419461 ENSP00000389659 ENSP00000337263

ENSP00000318820 ENSP00000263886 ENSP00000332044 ENSP00000444840

Reactome Protein details: P07202
Human Recombinant Protein Products for TPO:

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	ProSpec Recombinant Protein for TPO
	Uscn Proteins for TPO

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	--	--
GO:0005739	mitochondrion	IEA	--
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	TAS	2548579
GO:0009986	cell surface	IEA	--

TPO for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for TPO

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TPO for domains About GeneDecksing

5/9 InterPro domains/families (see all 9):

IPR002007 Haem_peroxidase_animal

IPR001881 EGF-like_Ca-bd

IPR000742 EG-like_dom

IPR013032 EGF-like_CS

IPR010255 Haem_peroxidase

Graphical View of Domain Structure for InterPro Entry P07202

ProtoNet protein and cluster: P07202

5 Blocks protein families:

IPB000152 Aspartic acid and asparagine hydroxylation site

IPB000436 Sushi domain/SCR domain/CCP module

IPB001881 EGF-like calcium-binding

IPB002007 Animal haem peroxidase signature

IPB010255 Haem peroxidase

UniProtKB/Swiss-Prot: PERT_HUMAN, P07202

Similarity: Belongs to the peroxidase family. XPO subfamily

Similarity: Contains 1 EGF-like domain

Similarity: Contains 1 Sushi (CCP/SCR) domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: PERT_HUMAN, P07202

Function: Iodination and coupling of the hormonogenic tyrosines in thyroglobulin to yield the thyroid hormones T(3) and

T(4)

Catalytic activity: 2 iodide + H(2)O(2) + 2 H(+) = 2 iodine + 2 H(2)O

Catalytic activity: [Thyroglobulin]-L-tyrosine + iodide + H(2)O(2) = [thyroglobulin]-3-iodo-L-tyrosine + 2 H(2)O

Catalytic activity: [Thyroglobulin]-3-iodo-L-tyrosine + iodide + H(2)O(2) = [thyroglobulin]-3,5-diiodo-L-tyrosine + 2

H(2)O

Catalytic activity: 2 [thyroglobulin]-3,5-diiodo-L-tyrosine + H(2)O(2) = [thyroglobulin]-L-thyroxine +

[thyroglobulin]-aminoacrylate + 2 H(2)O

Catalytic activity: [Thyroglobulin]-3-iodo-L-tyrosine + [thyroglobulin]-3,5-diiodo-L-tyrosine + H(2)O(2) =

[thyroglobulin]-3,5,3'-triiodo-L-thyronine + [thyroglobulin]-aminoacrylate + 2 H(2)O

Genatlas biochemistry entry for TPO:

thyroid peroxidase,thyroid hormone synthesis (iodide organification) and metabolism pathway

Enzyme Numbers (IUBMB): EC 1.11.1.8¹ ² EC 1.11.1²

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004447	iodide peroxidase activity	IEA	--
GO:0004601	peroxidase activity	TAS	3475693
GO:0005509	calcium ion binding	IEA	--
GO:0020037	heme binding	IEA	--

TPO for ontologies About GeneDecksing

Phenotypes:
3 GenomeRNAi human phenotypes for TPO:

Decreased number of cells in m

Increased Salmonella enterica

Increased circadian period len

6 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Tpo):

endocrine/exocrine gland	growth/size	hematopoietic system	homeostasis/metabolism	immune system
mortality/aging

TPO for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for TPO

miRNA Products:		OriGene 3'-UTR Clone (see all 3): TPO Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TPO
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TPO

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Regulation of thyroid hormone activity

Thyroxine biosynthesis

0.50

Amine-derived hormones

0.21

Metabolism of amino acids and derivatives

Metabolism of amino acids and derivatives

1.00

Hematopoietic cell lineage

Hematopoietic cell lineage

1.00

Jak-STAT signaling pathway

Jak-STAT signaling pathway

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

4 Reactome Pathways for TPO

	Thyroxine biosynthesis
	Amine-derived hormones
	Metabolism
	Metabolism of amino acids and derivatives

5/6 Kegg Pathways (Kegg details for TPO) (see all 6):

	Tyrosine metabolism
	Metabolic pathways
	Cytokine-cytokine receptor interaction
	Jak-STAT signaling pathway
	Hematopoietic cell lineage

UniProtKB/Swiss-Prot: PERT_HUMAN, P07202

Pathway: Hormone biosynthesis; thyroid hormone biosynthesis

TPO for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for TPO

STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

5/11 Interacting proteins for TPO (P07202³ ENSP00000329869⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 11)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TXNDC11	Q6PKC3³, ENSP00000283033⁴	I2D: score=1 STRING: ENSP00000283033
DUOX1	Q9NRD9³, ENSP00000317997⁴	I2D: score=1 STRING: ENSP00000317997
DDC	ENSP00000350616⁴	STRING: ENSP00000350616
GOT1	ENSP00000359539⁴	STRING: ENSP00000359539
GOT2	ENSP00000245206⁴	STRING: ENSP00000245206

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006590	thyroid hormone generation	TAS	--
GO:0006979	response to oxidative stress	--	--
GO:0034641	cellular nitrogen compound metabolic process	TAS	--
GO:0035162	embryonic hemopoiesis	IDA	--
GO:0042446	hormone biosynthetic process	IEA	--

TPO for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

TPO for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TPO

10/14 HMDB Compounds for TPO (see all 14) About this table

Compound	Synonyms	CAS #	PubMed Ids
2-Aminoacrylic acid	Dehydroalanine (see all 6)	--	--
3,5-Diiodo-L-tyrosine	3,5-Diiodotyrocine (see all 5)	300-39-0	--
Calcium	Ca (see all 2)	7440-70-2	--
Heme	(protoporphyrinato)iron (see all 19)	14875-96-8	--
Hydrogen peroxide	Hydrogen peroxide (see all 44)	7722-84-1	--
Hypothiocyanite	Cyanosulfoxylate;Hypothiocyanite;OSCN-Hypothiocyanite ion;N,6-didehydro-3,6-dihydro-3-methyl-Adenosine	63296-34-4	--
Iodide	Iodide (see all 10)	20461-54-5	--
Iodine	I2 (see all 8)	7553-56-2	--
Iodotyrosine	Monoiodotyrosine (see all 12)	70-78-0	--
Iron	Armco iron (see all 19)	7439-89-6	--

4 DrugBank Compounds for TPO About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Carbimazole	Athyromazole (see all 6)	22232-54-8	target	inhibitor	7952157 18055877 1278093 6706930 11752352 7528484 17042691 476986
Methimazole	Mercaptazole (see all 16)	60-56-0	target	inhibitor	1663395 1320313 12755690 10365684 11752352 11241400
Propylthiouracil	Procasil (see all 15)	51-52-5	target	inhibitor	12755690 10365684 17379648 11752352 2656250 11241400
Dextrothyroxine	--	51-49-0	target	--	16617153

10/81 Novoseek chemical compound relationships for TPO gene (see all 81) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
iodide	88.7	206	7711505 (5), 11061528 (3), 8369653 (3), 9924196 (3) (see all 94)
thyroxine	87.7	147	2081735 (3), 16440845 (2), 1318692 (2), 2387197 (1) (see all 99)
iodine	84.4	103	8900403 (2), 10433193 (2), 17505148 (2), 16277169 (2) (see all 60)
sp(1-4)	81.8	12	9062508 (2), 8814323 (2), 7512572 (2), 7714125 (1)
triiodothyronine	80.3	85	2081735 (3), 16440845 (2), 2387197 (1), 7775728 (1) (see all 60)
sodium iodide	79.4	33	19050049 (2), 10090312 (1), 18430446 (1), 19592511 (1) (see all 21)
methimazole	72.5	9	17379648 (1), 19669106 (1), 7626075 (1), 1794603 (1) (see all 8)
diiodotyrosine	71.7	4	8196170 (2), 8900403 (1), 1318692 (1)
guaiacol	69.2	37	7711505 (3), 8027249 (3), 9267319 (3), 2090669 (2) (see all 16)
atpo	64	4	11703366 (1), 18812059 (1), 16912122 (1), 19479016 (1)

Search CenterWatch for drugs/clinical trials and news about TPO / PERT

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TPO gene (7 alternative transcripts):

NM_000547.5 NM_001206744.1 NM_001206745.1 NM_175719.3 NM_175721.3 NM_175722.3 NM_175720.1

Unigene Cluster for TPO:

Thyroid peroxidase

Hs.467554 [show with all ESTs]

Unigene Representative Sequence: NM_000547

17 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000497517(uc010ewj.3 uc002qwz.3) ENST00000382269 ENST00000329066(uc010yio.2 uc010yip.2)

ENST00000382201 ENST00000423320 ENST00000382198(uc002qwy.1) ENST00000422464

ENST00000446278 ENST00000469607 ENST00000462973 ENST00000425083 ENST00000479902

ENST00000337415 ENST00000345913(uc002qwr.3 uc002qww.3 uc002qwx.3 uc002qwu.3)

ENST00000346956 ENST00000349624 ENST00000539820(uc010yin.1)

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TPO

Additional cDNA sequence:

AF439430.1 AF533528.1 AF533529.1 AF533530.1 AF533531.1 AK309868.1 AY136822.1 BC063107.1

BC095448.1 J02969.1 J02970.1 M17755.2 M55702.1 X17358.1 Y00406.1

10 DOTS entries:

DT.441094 DT.100781937 DT.100022296 DT.95080660 DT.97837233 DT.424270 DT.95080663 DT.101955958

DT.40207443 DT.121617867

24/75 AceView cDNA sequences (see all 75):

AA385749 AA384782 NM_175722 NM_000547 AW058262 NM_175719 AA384872 AU141148

BI002131 AA309509 NM_175720 NM_175721 AA385888 AI732567 AA384833 AW874079

M17755 J02970 BI754676 AF533528 BM920242 AA385595 AL044455 J02969

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for TPO (see all 6) About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4a	·	4b	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17a	·	17b	^	18a	·	18b
SP1:															-																								-
SP2:															-																								-
SP3:															-										-														-
SP4:															-										-														-
SP5:															-																		-

ECgene alternative splicing isoforms for TPO

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TPO expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GATGAATAAA

About this image

TPO expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Endothelium

Microvessels

Pericytes

Selective marker (cell-identifying gene)

Pericytes

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See TPO Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TPO

SOURCE GeneReport for Unigene cluster: Hs.467554

SABiosciences Expression via Pathway-Focused PCR Arrays including TPO:

Amino Acid Metabolism II in human mouse rat

Oxidative Stress in human mouse rat

Nitric Oxide Signaling Pathway in human mouse rat

Molecular Toxicology PathwayFinder 384HT in human mouse rat

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for TPO gene from 4/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	TPO¹	thyroid peroxidase	64.81(n) 65.44(a)		776120 XM_001235672.2 XP_001235673.2
lizard (Anolis carolinensis)	Reptilia	TPO⁶ LPO⁶	--	61(a) 38(a)	1 ↔ 1 possible ortholog	1(161217470-161279673) GL344475.1(242-2089)
zebrafish (Danio rerio)	Actinopterygii	LOC100331172¹	thyroid peroxidase-like	52.92(n) 45.43(a)		100331172 XM_003201381.1 XP_003201429.1
worm (Caenorhabditis elegans)	Secernentea	F32A5.2a³	Peroxidase	35(a) (best of 9)		II(7245851-7249911) --

ENSEMBL Gene Tree for TPO (if available)
TreeFam Gene Tree for TPO (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for TPO gene

LPO² EPX² PXDNL² PXDN² MPO²

6 SIMAP similar genes for TPO using alignment to 15 protein entries: PERT_HUMAN (see all proteins):

EPX MPO PXDN PXDNL LPO DKFZp686G24255

TPO for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104893669^1,2	C	pathogenic	1488368(+)	`CACAGA/TTCATC`	12	I F	mis¹		0	--	--	--	--
rs121908083^1,2	C,F	pathogenic	1488386(+)	`GGGATT/GACATC`	12	/D /Y	mis¹		2		NA EU	5873
rs121908082^1,2	C	pathogenic	1491613(+)	`TAATAC/TGAGGC`	10	R *	stg¹ int¹		1		EU	1323
rs121908088^1,2	C	pathogenic	1497783(+)	`GGAAGC/GAGATG`	12	Q E	mis¹		1		EU	1323
rs121908085^1,2	C	pathogenic	1507728(+)	`TGAACA/GAGTGT`	11	K E	mis¹ int¹		0	--	--	--	--
rs189068375^1,2		--	1415240(+)	`AGTATG/TTACTT`	4	--	us2k¹		0	--	--	--	--
rs144275362^1,2		--	1415296(+)	`CCCACA/GCTGTC`	4	--	us2k¹		0	--	--	--	--
rs2298875^1,2	C,F,H	--	1415329(+)	`GGCTGT/CGTGAA`	4	--	us2k¹		6		EA NS	1826
rs28909983^1,2	C,F	--	1415407(+)	`TAGATC/GCAAAT`	4	--	us2k¹		5		NS	188
rs141020792^1,2		--	1415564(+)	`TCAGAC/TTTTCC`	4	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for TPO (1377995 - 1547483 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 53 variations for TPO
15/39 CNVs (see all 39): 89379 97735 78342 78345 89383 78338 89389 89384 72232 78335 2362 89376 66786 89380 78331
14 Indels: 72238 78343 41522 12047 45875 78339 61737 26458 26453 12046 89377 26448 26451 45872
Human Gene Mutation Database (HGMD): TPO

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TPO for disorders           About GeneDecksing

OMIM gene information: 606765
OMIM disorders: 274500
UniProtKB/Swiss-Prot: PERT_HUMAN, P07202

Note=An alternative splicing in the thyroperoxidase mRNA can cause Graves' disease

Defects in TPO are the cause of thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]. A disorder due to defective

conversion of accumulated iodide to organically bound iodine. The iodide organification defect can be partial or

complete

20/136 diseases for TPO (see all 136): About MalaCards

thyroiditis goiter congenital hypothyroidism total iodide organification defect

hypothyroidism thyroid hormone organification defect iia multinodular goiter nontoxic goiter

thyrotoxic periodic paralysis endemic goiter toxic diffuse goiter thyroid dyshormonogenesis 2a

hypersensitivity reaction type ii disease transient neonatal diabetes mellitus neonatal diabetes mellitus chronic mucocutaneous candidiasis

diabetes mellitus premature menopause endogenous depression pendred syndrome

2 diseases from the University of Copenhagen DISEASES database for TPO:

Babesiosis Autoimmune thyroiditis

10/92 Novoseek disease relationships for TPO gene (see all 92) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
autoimmune thyroid disease	96.2	231	1702446 (4), 10520899 (3), 2256432 (2), 8375572 (2) (see all 99)
hashimotos thyroiditis	92	108	2242608 (3), 8067701 (3), 8603516 (3), 2330843 (2) (see all 68)
thyroid dysfunction postpartum	91.4	12	17845204 (2), 10999807 (1), 15320974 (1), 9828915 (1) (see all 11)
dysfunction thyroid	91.3	24	11148327 (2), 2387197 (1), 11078988 (1), 15320974 (1) (see all 18)
graves disease	91.3	129	8257863 (3), 8187932 (2), 1740495 (2), 8408460 (2) (see all 72)
hypothyroidism	91.1	93	20329425 (3), 15853828 (2), 19960894 (2), 12663594 (2) (see all 68)
thyroid diseases	91	100	15958307 (4), 9508203 (3), 8808096 (2), 16756464 (2) (see all 62)
thyroiditis	89.7	41	2311297 (4), 15320899 (4), 19829002 (2), 8871757 (1) (see all 29)
goiter	87	69	7711505 (6), 7951537 (5), 15326651 (2), 7549998 (2) (see all 35)
hyperthyroidism	85.8	20	16571091 (2), 19549735 (2), 8345048 (1), 8051490 (1) (see all 16)

Genatlas disease: TPO

goiter (organification defect IIA)

Genetic Association Database (GAD): TPO
Human Genome Epidemiology (HuGE) Navigator: TPO (71 documents)

Export disorders for TPO gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for TPO gene, integrated from 9 sources (see all 1013):
(articles sorted by number of sources associating them with TPO)

Utopia: connect your pdf to the dynamic
world of online information

Partial iodide organification defect caused by a novel mutation of the thyroid peroxidase gene in three siblings. (PubMed id 12864797)^{1, 2, 9} Kotani T....Harada S. (2003)
Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects. (PubMed id 9024270)^{1, 2, 9} Bikker H.... De Vijlder J.J.M. (1997)
Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update). (PubMed id 11061528)^{1, 2, 9} Bakker B....De Vijlder J.J.M. (2000)
A novel mutation in the human thyroid peroxidase gene resulting in a total iodide organification defect. (PubMed id 9924196)^{1, 2, 9} Kotani T.... Ohtaki S. (1999)
Differential evolution of thyroid peroxidase and thyrotropin receptor antibodies in Graves' disease: thyroid peroxidase antibody activity reverts to pretreatment level after carbimazole withdrawal. (PubMed id 17042691)^{1, 7, 9} Guilhem I....Maugendre D. (2006)
Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism. (PubMed id 11916616)^{1, 2, 9} Umeki K.... Ichiba Y. (2002)
Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes. (PubMed id 16684826)^{1, 2, 9} Pfarr N.... Pohlenz J. (2006)
Two novel mutations in the thyroid peroxidase gene with goitrous hypothyroidism. (PubMed id 16284446)^{1, 2, 9} Tajima T.... Fujieda K. (2005)
Identification of a novel partner of duox: EFP1, a thioredoxin- related protein. (PubMed id 15561711)^{1, 2, 9} Wang D....Miot F. (2005)
Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect. (PubMed id 12938097)^{1, 2, 9} Rivolta C.M.... Targovnik H.M. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 7173	HGNC: 12015	AceView: TPO	Ensembl:ENSG00000115705	euGenes: HUgn7173
ECgene: TPO	Kegg: 7173	H-InvDB: TPO

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for TPO	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for TPO	Genetics and Cytogenetics in Oncology and Haematology
Wikipedia	http://en.wikipedia.org/wiki/Thyroid_peroxidase

Intellectual Property for TPO gene
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Pregnancy loss
Down Syndrome
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preterm delivery
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Toxic diffuse goiter
ADRENAL DISEASE
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THYROID CARCINOMA ANAPLASTIC
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TPO Gene

thyroid peroxidase

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